204000.7.G

Jordan

Blindness; Growth delay; Paralysis

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000180.4:c.2129C>T	12		Leber Congenital Amaurosis 1

6 affected siblings of 204000.7.1 No intellectual disability, but have a combination of paralysis, immature growth and/or blindness.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
204000.7.1	Jordan	Intellectual disability; Cataract; Nystagmus; Blindness; Growth delay	Female	Yes	Yes